Genetic Disorder Detection

SynsorBio offers One-Stop Solutions of NGS applications to our customers. SynsorBio XS240N and SynplStation 2400+ form an Automated Solution for sample preparation before sequencing. In addition, SynsorBio also provides different Bioinformatics Analysis Systems according to different NGS detection applications, like Non-Invasive Prenatal Testing(NIPT), Genetic Disorder Detection, Tumor Detection and Pathogenic Microorganisms Detection.

The human genome contains more than 20,000 genes. The exome is the collection of all exonic regions in the genome, which accounts for 1% of the total length of the human genome. Currently, more than 85% of genetic diseases are caused by mutations in these regions.

Whole-exome Genetic Testing

- Single-WES(>20000 Genes)

This covers more than 9,000 diseases curently known and comprehensively detects pathogenic genes for complex genetic diseases.

- Trio-WES(＞20000 Genes)

Familial whole-exome sequencing can directly analyze de novo mutations, homozygous and compound heterozygous mutations form parents,The positive rate and turnaround time are better than single proband analysis.

◆ Advantages of Technology

- Accurate

Provide verification based on complementary technologies such as Sanger, MLPA, qPCR for discovered mutations.

- Comprehensive

The panel includes 20,000+ exonic regions, some deep intronic regions and pseudogene regions targeting genetic variations.

- Probe Optimization, Uniform Capture

Design uniquely enhanced probes based on the GC content and secondary structure of different gene regions to enhance low coverage areas and improve capture of unstable regions.

- Sensitive CNV Analysis

Combining the CNVexonTM algorithm to ensure that CNVs in two consecutive exonic regions can be accurately detected.